Genopathy
Gene-Disorder Association · Article
Gene
LOC110973015
NOS3 5' Regulatory Region
Disorder
Disease Of Metabolism
First reported 1950
Key publication · disorder A system of physiodynamics and its application to the neuroendocrinology of psychiatry; part II of physiodynamics and some major metabolic disorders.Journal of clinical and experimental psychopathology · 1950
Association Review

In brief

The association between LOC110973015 (NOS3 5' Regulatory Region) and Disease Of Metabolism is supported by expert-curated evidence, supported by a single expert-curated source.

Sources 1
Clinical variants 1
Symptoms 1
Compounds 0
Trials 0
Publications 0
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
LOC110973015

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Disease Of Metabolism

The disorder

9 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
ClinVar and variant evidence

Genetic basis

1 clinical variant

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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06
Provenance

References & sources

3 references

Every source and publication cited across this dossier, as one numbered reference list.

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